A5052522650- Radiomics and Machine Learning in Medical Imaging
- Cancer Genomics and Diagnostics
- Cancer-related gene regulation
- Metalloenzymes and iron-sulfur proteins
- Cancer, Lipids, and Metabolism
- Thyroid Cancer Diagnosis and Treatment
- Colorectal Cancer Screening and Detection
- Genetic factors in colorectal cancer
- Estrogen and related hormone effects
- Endometrial and Cervical Cancer Treatments
- Genomics and Rare Diseases
- Head and Neck Anomalies
- Innovation Policy and R&D
- Gut microbiota and health
- Genomics and Phylogenetic Studies
- Cancer-related Molecular Pathways
- Health, Environment, Cognitive Aging
- Cancer Cells and Metastasis
- Advanced Breast Cancer Therapies
- PARP inhibition in cancer therapy
- Radiopharmaceutical Chemistry and Applications
- RNA modifications and cancer
- Ferroptosis and cancer prognosis
- Cancer, Hypoxia, and Metabolism
- Lung Cancer Diagnosis and Treatment
Zhejiang Medicine (China)
2023-2024
Health Biomed (China)
2021-2022
Shanghai Center For Bioinformation Technology
2021
<sec><b>Objective</b>Patients with radioactive iodine-refractory differentiated thyroid cancer (RAIR-DTC) are often diagnosed delay and constrained to limited treatment options. The correlation between RAI refractoriness the underlying genetic characteristics has not been extensively studied. </sec><sec><b>Methods</b>Adult patients distant metastatic DTC were enrolled assigned undergo next-generation sequencing of a customized 26-gene panel (ThyroLead). Patients classified into RAIR-DTC or...
Abstract Hypoxia has been reported to promote the proliferation and migration of thyroid cancer, while special mechanism was still unclear. HIF‐1α/carnitine palmitoyl‐transferase 1A (CPT1A) found be associated with papillary carcinoma (PTC) but biological role CPT1A in PTC not explored. The effects hypoxia carnitine expression on cells were determined by cell counting kit‐8 assay, detection oxidative stress, inflammation response mitochondrial membrane motential (MMP). Oil Red O staining...
Conventional blood and stool tests are normally used for early screening of colorectal cancer (CRC) but the accuracy efficiency remain to be improved. Recent findings suggest Fusobacterium nucleatum a biomarker CRC. This study evaluated role F. developed CRC diagnostic models by combining with fecal occult (FOB), transferrin (TRF), carcinoembryonic antigen (CEA), carbohydrate 19-9 (CA19-9), gender, age.Candidates including 71 healthy individuals 59 patients were recruited. Abundance in or...
Despite whole-genome sequencing (WGS), many cases of single-gene disorders remain unsolved, impeding diagnosis and preventative care for people whose disease-causing variants escape detection. Since early WGS data analytic steps prioritize protein-coding sequences, to simultaneously in non-coding regions rich transcribed critical regulatory we developed GROFFFY, an tool that integrates coordinates with experimental evidence functionality. Applied from solved unsolved hereditary hemorrhagic...
Patients with differentiated thyroid cancer (DTC) distant metastasis (DM) are usually not recognized as radioactive iodine (RAI)-refractory DTC in a timely manner. The elucidation of genetic features related to RAI uptake patterns may shed light on the early recognition RAI-refractory DTC.
Abstract Despite whole genome sequencing (WGS), why do many single gene disorder cases remain unsolved, impeding diagnosis and preventative care for people whose disease-causing variants escape detection? Early WGS data analytic steps prioritize protein-coding sequences. To simultaneously prioritise in non-coding regions rich transcribed critical regulatory sequences, we developed GROFFFY, an tool which integrates coordinates with experimental evidence of functionality. Applied to from...
Ovarian cancer (OC) is a major cause of mortality in women worldwide. Due to the occult onset OC, its nonspecific clinical symptoms early phase, and lack effective diagnostic tools, most OC patients are diagnosed at an advanced stage. In this study, shallow whole-genome sequencing was utilized characterize fragmentomics features circulating tumor DNA (ctDNA) patients. By applying machine learning model, multiclass data achieved mean area under curve (AUC) 0.97 (95% CI 0.962-0.976) for...
Abstract Circulating tumor DNA (ctDNA) has been widely used as a minimally invasive biomarker in clinical routine. However, number of factors such panel design, sample quality, patients' disease stages are known to influence ctDNA detection sensitivity. In this study, we systematically evaluated common associated with the variability plasma and investigated abundance bronchoalveolar lavage (BAL). Whole exome profiling was conducted on 61 tissue samples identify tumor‐specific variants, which...
e20516 Background: Approval Selpercatinib of FDA for lung and thyroid cancer patients harboured RET mutations or fusions attracts the investigation fusion partners their ability RET‐based targeted therapy. Here, we presented a genomic characteristics in six type among 24,087 Chinese patients. Methods: Tumor samples (including tissues, formalin-fixed paraffin-embedded plasma) obtained from between March 2021 February 2023 were used detection. Customed probes designed to covered all exonic...
157 Background: Early recurrence of HCC after curative resection is common. However, the association between genetic alterations and early recurrence, especially in Chinese patients (pts), remains largely unknown. Methods: We retrospectively analyzed 214 formalin-fixed paraffin-embedded (FFPE) tumor specimens that were collected from June 2016 to October 2021. Clinical outcomes related frequently mutated genes evaluated 176 pts with a median follow-up time 21.9 months. Tumor tissue samples...
89 Background: A number of similar tests were developed since FDA approval using niraparib in HRD positive (HRD score >=42) patients. However, various factors can substantially influence estimation. We hereby evaluated the concordancy bioinformatics pipelines, especially different copy variation (CNV) algorithms, inferring scores. Methods: total 195 ovarian cancer patients enrolled from April 2021 to Dec 2022 used for retrospective analysis this study. Both tumor tissue and blood samples...
SUMMARY Whole genome sequencing (WGS ) is championed by the UK National Health Service (NHS) to identify genetic variants that cause particular diseases. The full potential of WGS has yet be realised as early data analytic steps prioritise protein-coding genes, and effectively ignore less well annotated non-coding which rich in transcribed critical regulatory regions. To address, we developed a filter, call GROFFFY, validated from hereditary haemorrhagic telangiectasia patients within...
e17561 Background: HRD test from Myriad Inc. was approved by FDA as a biomarker for niraparib in ovarian cancer. Its threshold (as 42) initially established capturing 95% of tumors with BRCA1/2 mutation and BRCA1 promoter methylation the training cohort. Here, we explored stochasticity such threshold, when noises themselves were concerned. Methods: We simulated scores figure 1 Telli et al., 2016 assigning median each histogram bin to associated samples. The calculated, described original...
Contentsrespectively.The sensitivity and specificity of 3D USG with power Doppler were 84% 88% respectively area under the curve 0.96 (95% CI=0.92-0.99).With simple rules, 11.9% (10/84) cases inconclusive which correctly discriminated 50% malignant (3/6).Conclusion: Both IOTA rules have a good ability to differentiate benign from adnexal masses.3D does not provide any added advantage over rules.However, potential use as second step test in masses should be subject further evaluation.